Clinical, pathophysiological and genetic aspects of inherited tubular disorders in childhood

Abstract

In this review, we described the tubular function of each nephron segment followed by the most important changes that may occur in the transporters expressed therein. Thus, knowledge of the changes in renal tubular function allows the understanding and recognition of renal tubular diseases that can cause stillbirth or death in newborns or in childhood. Moreover, children with tubular disorders may progress to chronic renal disease at an early stage of life and they may also show disturbances of growth and development associate or not with neurological dysfunction. Therefore, we used the keyword "inherited tubular disorders" to select the children studies that have been published in the PubMed database since 2006. We hope that this review may help physicians to perform an early diagnosis in patients with tubular disorders allowing a specialized treatment and an improvement in their prognosis and quality of life.

Haemodialysis significantly reduces serum levetiracetam levels inducing epileptic seizures: Case report

“…We report a case of a 25‐year‐old female patient (dry weight 40 Kg) who had been on intermittent HD for 3 months after kidney transplant failure. She had a hereditary genetic disorder caused by mutations in the SLC4A4 gene, resulting in severe visual impairment, congenital tubulopathy and intellectual disability. Furthermore, the patient had hemiplegic migraine and seizures, and chronic treatment with levetiracetam 500 mg twice daily was prescribed.…”

“…We report a case of a 25-year-old female patient (dry weight 40 Kg) who had been on intermittent HD for 3 months after kidney transplant failure. She had a hereditary genetic disorder caused by mutations in the SLC4A4 gene, 3 Table 1. Valproate 500 mg twice daily was started.…”